Canonical Allele Identifier: CA7176846
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2797699
ClinVar RCV Id: RCV003755274
dbSNP Id: rs747159089
ExAC: 14:50597272 G / C
gnomAD v2: 14-50597272-G-C
gnomAD v4: 14-50130554-G-C
MyVariant Identifiers: chr14:g.50597272G>C (hg19) chr14:g.50130554G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130554G>C , CM000676.2:g.50130554G>C GRCh38
NC_000014.8:g.50597272G>C , CM000676.1:g.50597272G>C GRCh37
NC_000014.7:g.49667022G>C NCBI36
NG_051073.1:g.106140C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3284C>G MANE Select ENSP00000216373.5:p.Ser1095Cys
ENST00000216373.9:c.3284C>G ENSP00000216373.5:p.Ser1095Cys
ENST00000543680.5:c.3185C>G ENSP00000445328.1:p.Ser1062Cys
NM_006939.2:c.3284C>G NP_008870.2:p.Ser1095Cys
XM_005268021.1:c.3104C>G XP_005268078.1:p.Ser1035Cys
XM_011537103.1:c.3245C>G XP_011535405.1:p.Ser1082Cys
NM_006939.3:c.3284C>G NP_008870.2:p.Ser1095Cys
NM_006939.4:c.3284C>G MANE Select NP_008870.2:p.Ser1095Cys
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